A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11733367



Internal ID4749155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184558642..184559913hg38UCSC Ensembl
Innerchr4:184558656..184559900hg38UCSC Ensembl
Outerchr4:184558629..184559927hg38UCSC Ensembl
chr4:185479796..185481067hg19UCSC Ensembl
Innerchr4:185479810..185481054hg19UCSC Ensembl
Outerchr4:185479783..185481081hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381272
hg191272
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603461
Supporting Variants
SamplesNA07347
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11733367
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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